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List of works by Tomohiko Yamamura

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

scientific article published on October 2016

A birth of bipartite exon by intragenic deletion

scientific article

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

scientific article

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

scientific article published on 4 December 2017

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

scientific article published on 9 March 2017

Clinical and genetic variability of PAX2-related disorder in the Japanese population

scientific article published on 16 March 2020

Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.

scientific article published on 10 January 2017

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

scientific article published on 27 October 2016

Diagnostic strategy for inherited hypomagnesemia

scientific article published in March 2017

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

scientific article published on 16 April 2015

Female X-linked Alport syndrome with somatic mosaicism.

scientific article published on 31 October 2016

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome

scientific article published on 20 November 2020

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

scientific article

Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1

scientific article published on 01 September 2015

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

scientific article published on 11 March 2016

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